Case Report / Olgu Sunumu
DOI: 10.4274/tjod.24434
Wilson’s disease presenting with HELLP syndrome; A case report HELLP sendromu ile prezente olan Wilson hastalığı: Olgu sunumu Sümeyra Nergiz Avcıoğlu1, Sündüz Özlem Altınkaya1, Mert Küçük2, Emre Zafer1, Selda Demircan Sezer1, Ali Rıza Odabaşı3 1Adnan Menderes University Faculty of Medicine, Department of Gynecology and Obstetrics, Aydın, Turkey 2Muğla Sıtkı Koçman University Faculty of Medicine, Department of Gynecology and Obstetrics, Muğla, Turkey 3Private Outpatient Clinic, Aydın, Turkey
Abstract Wilson’s disease (WD) is an autosomal recessive disorder. It is characterized by toxic accumulation of copper mainly in the liver and brain but also in cornea and kidney due to a defect in biliary excretion of copper. The hepatic manifestation of WD is diverse and may include asymptomatic elevation of aminotransferase, chronic hepatitis, cirrhosis, or acute/fulminant hepatic failure. Characteristic of acute hepatic failure in WD is concomitance of acute intravascular hemolytic anemia. Acute intravascular hemolytic anemia and thrombocytopenia in WD may be interpreted as a feature of Hemolysis, Elevated Liver Enzymes, Low Platelet Count (HELLP) syndrome besides acute liver failure. The differential diagnosis may be very difficult. Here, WD in pregnancy presenting with clinical symptoms of HELLP syndrome and developing acute liver failure in postpartum period is discussed. J Turk Soc Obstet Gynecol 2015;1:56-9 Key Words: Wilson’s disease, pregnancy, HELLP syndrome, acute liver failure Conflicts of Interest: The authors reported no conflict of interest related to this article.
Özet Wilson hastalığı (WH) otozomal resesif bir hastalıktır. Bakır metalinin safra atılım sisteminin bozukluğundan dolayı, özellikle karaciğer, böbrek, kornea ve beyin dokusunda, toksik dozda birikimi ile karakterizedir. Hepatik bulgular oldukça değişkendir; aminotransferazların asemptomatik yükselmesinden, kronik hepatit, siroz, akut veya fulminant karaciğer yetmezliğine kadar değişim gösteren bir klinik tablo izlenebilir. WH’de akut karaciğer yetmezliği, akut intravasküler hemolitik anemi ile karakterizedir. WH olduğu bilinen bir gebede, görülen hemoliz ve trombositopeni bulgusu karaciğer yetmezliğinin yanısıra Hemolysis, Elevated Liver Enzymes, Low Platelet Count (HELLP) sendromuna bağlı olarak geliştiği yorumlanabilir. Ancak tanı koymak oldukça güçtür. Burada HELLP sendromu ile prezente olan, postpartum dönemde akut karaciğer yetmezliği bulguları da gelişen WH olgusu literatür eşliğinde tartışılmıştır. J Turk Soc Obstet Gynecol 2015;1:56-9 Anahtar Kelimeler: Wilson hastalığı, gebelik, HELLP sendromu, akut karaciğer yetmezliği Çıkar Çatışması: Yazarlar bu makale ile ilgili olarak herhangi bir çıkar çatışması bildirmemiştir.
Introduction Wilson’s disease (WD) was first identified by Kinnear Wilson in 1912. The incidence of the disease is reported as 1/300001/100000 births(1). Carrier frequency is 1/90. The gene responsible for the disease is ATP7B, located on chromosome 13(2). It is most commonly seen in the second-third decades of life(3). In more than 80% of patients, the symptoms of the
disease are observed in the first three decades(4). The symptoms of WD-related fulminant hepatic failure are particularly seen in female patients below the age of 40 years(5). Clinical findings are quite various and include hepatic and neuropsychiatric symptoms. The hepatic manifestation of WD is diverse and may include a clinical presentation that varies from asymptomatic elevation of aminotransferase, chronic hepatitis and cirrhosis, to acute/fulminant hepatic failure(6).
Address for Correspondence/Yazışma Adresi: Sümeyra Nergiz Avcıoğlu, MD, Adnan Menderes University Faculty of Medicine, Department of Gynecology and Obstetrics, Aydın, Turkey Phone: +90 535 891 92 90 E-mail: [email protected] Received /Geliş Tarihi : 10.03.2014 Accepted/Kabul Tarihi : 20.06.2014
56
Sümeyra Nergiz Avcıoğlu et al. HELLP syndrome and Wilson disease
The acute liver failure in WD is concomitant with acute intravascular Coombs-negative hemolytic anemia and, in some patients, may be manifested as the first symptom of the disease(7). Acute intravascular hemolysis and thrombocytopenia in a pregnant woman known to have WD may be interpreted, together with acute liver failure, as a feature of HELLP syndrome(8). The differential diagnosis may be difficult however. HELLP syndrome is seen in 0.1-0.6% of pregnant women, particularly in the second trimester (in 70% of cases) and in the postpartum period (in the first 1-2 days)(9). The laboratory criteria for HELLP syndrome were first defined in 1986. These are hemolytic findings (bilirubin increase >1.2 mg/dL), abnormal liver functions (AST>70 IU/L), reduced thrombocytes of less than 100x109/L. Endothelial damage or dysfunction causes abnormal expression of inflammatory mediators and an activation and aggregation of thrombocytes. This leads to the fragmentation of red blood cells, hemolysis and microangiopathic anemia. In addition, an abnormal activation of thrombocytes and thrombocytopenia arising from increased use are observed(4). Here, a case of WD in pregnancy, presenting clinical manifestations of HELLP syndrome concomitant with acute liver failure developed during postpartum period is discussed. Case A 24-year-old patient in the 37th week of spontaneous pregnancy, gravida 1, parity 0, was admitted at our obstetrics clinic with the start of labor. The patient’s pregnancy controls were taking place at our obstetrics outpatient clinic as from the 31st week of pregnancy. An abdominal ultrasonography performed when the patient was seventeen years old revealed a cirrhotic liver. The biochemical test results showed a ceruloplasmin level of 10.1mg/dl (25.0-45.0 mg/dl), free copper levels of 71μgr/dl (normal
DOI: 10.4274/tjod.24434
Wilson’s disease presenting with HELLP syndrome; A case report HELLP sendromu ile prezente olan Wilson hastalığı: Olgu sunumu Sümeyra Nergiz Avcıoğlu1, Sündüz Özlem Altınkaya1, Mert Küçük2, Emre Zafer1, Selda Demircan Sezer1, Ali Rıza Odabaşı3 1Adnan Menderes University Faculty of Medicine, Department of Gynecology and Obstetrics, Aydın, Turkey 2Muğla Sıtkı Koçman University Faculty of Medicine, Department of Gynecology and Obstetrics, Muğla, Turkey 3Private Outpatient Clinic, Aydın, Turkey
Abstract Wilson’s disease (WD) is an autosomal recessive disorder. It is characterized by toxic accumulation of copper mainly in the liver and brain but also in cornea and kidney due to a defect in biliary excretion of copper. The hepatic manifestation of WD is diverse and may include asymptomatic elevation of aminotransferase, chronic hepatitis, cirrhosis, or acute/fulminant hepatic failure. Characteristic of acute hepatic failure in WD is concomitance of acute intravascular hemolytic anemia. Acute intravascular hemolytic anemia and thrombocytopenia in WD may be interpreted as a feature of Hemolysis, Elevated Liver Enzymes, Low Platelet Count (HELLP) syndrome besides acute liver failure. The differential diagnosis may be very difficult. Here, WD in pregnancy presenting with clinical symptoms of HELLP syndrome and developing acute liver failure in postpartum period is discussed. J Turk Soc Obstet Gynecol 2015;1:56-9 Key Words: Wilson’s disease, pregnancy, HELLP syndrome, acute liver failure Conflicts of Interest: The authors reported no conflict of interest related to this article.
Özet Wilson hastalığı (WH) otozomal resesif bir hastalıktır. Bakır metalinin safra atılım sisteminin bozukluğundan dolayı, özellikle karaciğer, böbrek, kornea ve beyin dokusunda, toksik dozda birikimi ile karakterizedir. Hepatik bulgular oldukça değişkendir; aminotransferazların asemptomatik yükselmesinden, kronik hepatit, siroz, akut veya fulminant karaciğer yetmezliğine kadar değişim gösteren bir klinik tablo izlenebilir. WH’de akut karaciğer yetmezliği, akut intravasküler hemolitik anemi ile karakterizedir. WH olduğu bilinen bir gebede, görülen hemoliz ve trombositopeni bulgusu karaciğer yetmezliğinin yanısıra Hemolysis, Elevated Liver Enzymes, Low Platelet Count (HELLP) sendromuna bağlı olarak geliştiği yorumlanabilir. Ancak tanı koymak oldukça güçtür. Burada HELLP sendromu ile prezente olan, postpartum dönemde akut karaciğer yetmezliği bulguları da gelişen WH olgusu literatür eşliğinde tartışılmıştır. J Turk Soc Obstet Gynecol 2015;1:56-9 Anahtar Kelimeler: Wilson hastalığı, gebelik, HELLP sendromu, akut karaciğer yetmezliği Çıkar Çatışması: Yazarlar bu makale ile ilgili olarak herhangi bir çıkar çatışması bildirmemiştir.
Introduction Wilson’s disease (WD) was first identified by Kinnear Wilson in 1912. The incidence of the disease is reported as 1/300001/100000 births(1). Carrier frequency is 1/90. The gene responsible for the disease is ATP7B, located on chromosome 13(2). It is most commonly seen in the second-third decades of life(3). In more than 80% of patients, the symptoms of the
disease are observed in the first three decades(4). The symptoms of WD-related fulminant hepatic failure are particularly seen in female patients below the age of 40 years(5). Clinical findings are quite various and include hepatic and neuropsychiatric symptoms. The hepatic manifestation of WD is diverse and may include a clinical presentation that varies from asymptomatic elevation of aminotransferase, chronic hepatitis and cirrhosis, to acute/fulminant hepatic failure(6).
Address for Correspondence/Yazışma Adresi: Sümeyra Nergiz Avcıoğlu, MD, Adnan Menderes University Faculty of Medicine, Department of Gynecology and Obstetrics, Aydın, Turkey Phone: +90 535 891 92 90 E-mail: [email protected] Received /Geliş Tarihi : 10.03.2014 Accepted/Kabul Tarihi : 20.06.2014
56
Sümeyra Nergiz Avcıoğlu et al. HELLP syndrome and Wilson disease
The acute liver failure in WD is concomitant with acute intravascular Coombs-negative hemolytic anemia and, in some patients, may be manifested as the first symptom of the disease(7). Acute intravascular hemolysis and thrombocytopenia in a pregnant woman known to have WD may be interpreted, together with acute liver failure, as a feature of HELLP syndrome(8). The differential diagnosis may be difficult however. HELLP syndrome is seen in 0.1-0.6% of pregnant women, particularly in the second trimester (in 70% of cases) and in the postpartum period (in the first 1-2 days)(9). The laboratory criteria for HELLP syndrome were first defined in 1986. These are hemolytic findings (bilirubin increase >1.2 mg/dL), abnormal liver functions (AST>70 IU/L), reduced thrombocytes of less than 100x109/L. Endothelial damage or dysfunction causes abnormal expression of inflammatory mediators and an activation and aggregation of thrombocytes. This leads to the fragmentation of red blood cells, hemolysis and microangiopathic anemia. In addition, an abnormal activation of thrombocytes and thrombocytopenia arising from increased use are observed(4). Here, a case of WD in pregnancy, presenting clinical manifestations of HELLP syndrome concomitant with acute liver failure developed during postpartum period is discussed. Case A 24-year-old patient in the 37th week of spontaneous pregnancy, gravida 1, parity 0, was admitted at our obstetrics clinic with the start of labor. The patient’s pregnancy controls were taking place at our obstetrics outpatient clinic as from the 31st week of pregnancy. An abdominal ultrasonography performed when the patient was seventeen years old revealed a cirrhotic liver. The biochemical test results showed a ceruloplasmin level of 10.1mg/dl (25.0-45.0 mg/dl), free copper levels of 71μgr/dl (normal
